Canonical Allele Identifier: CA405424720

Gene: KMT2B

Linked Data

• MyVariant Identifiers: chr19:g.36223395T>G (hg19) ; chr19:g.35732494T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35732494T>G , CM000681.2:g.35732494T>G	GRCh38
NC_000019.9:g.36223395T>G , CM000681.1:g.36223395T>G	GRCh37
NC_000019.8:g.40915235T>G	NCBI36
NG_052906.1:g.19476T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592092.2:n.251T>G
ENST00000673918.2:c.5879T>G	ENSP00000501283.1:p.Val1960Gly
ENST00000674114.2:c.3486T>G	ENSP00000501039.2:n.3486T>G
ENST00000684977.1:c.1163T>G	ENSP00000509384.1:p.Val388Gly
ENST00000689544.1:n.1098T>G
ENST00000691421.1:c.1166T>G	ENSP00000508674.1:p.Val389Gly
ENST00000691855.1:c.5487T>G
ENST00000692961.1:c.5945T>G	ENSP00000509289.1:p.Val1982Gly
ENST00000693677.1:c.704+165T>G	ENSP00000509779.1:n.704+165T>G
ENST00000420124.4:c.5945T>G MANE Select	ENSP00000398837.2:p.Val1982Gly
ENST00000673918.1:c.5879T>G	ENSP00000501283.1:p.Val1960Gly
ENST00000674114.1:c.3267T>G
ENST00000420124.2:c.5945T>G	ENSP00000398837.1:p.Val1982Gly
NM_014727.2:c.5945T>G	NP_055542.1:p.Val1982Gly
XM_011527561.1:c.5879T>G	XP_011525863.1:p.Val1960Gly
XM_011527562.1:c.5945T>G	XP_011525864.1:p.Val1982Gly
XM_011527563.1:c.5669T>G	XP_011525865.1:p.Val1890Gly
XM_011527561.2:c.5381T>G	XP_011525863.2:p.Val1794Gly
XM_011527562.2:c.5945T>G	XP_011525864.1:p.Val1982Gly
XM_017027544.1:c.5945T>G	XP_016883033.1:p.Val1982Gly
XM_017027545.1:c.5381T>G	XP_016883034.1:p.Val1794Gly
XM_017027546.1:c.2909T>G	XP_016883035.1:p.Val970Gly
NM_014727.3:c.5945T>G MANE Select	NP_055542.1:p.Val1982Gly